Associated Papers
Detection of 13 Novel Variants and Investigation of Mutation Distribution by Next Generation Sequencing in Hemoglobinopathies: A Single Center Experience.
Ozalp O et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2024
Revisiting and updating molecular epidemiology of α-thalassemia mutations in Thailand using MLPA and new multiplex gap-PCR for nine α-thalassemia deletion.
Jomoui W et al.
Scientific Reports, 2023
The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.
Sun J et al.
Genomics, Proteomics & Bioinformatics, 2020
32827758 (PubMed )
Supplement: mmc12.xlsx › Supplementary_table_6
A New Intergenic α-Globin Deletion (α-αΔ125) Found in a Kabyle Population.
Singh AR et al.
Hemoglobin, 2016
Estimation of the difference in HbF expression due to loss of the 5' δ-globin BCL11A binding region.
Ghedira ES et al.
Haematologica, 2013
Hb Fulton-Georgia [α20(B1)His→Pro; HBA1: c.62A>C]: a new α-globin variant coinherited with α-thalassemia-2 (3.7 kb deletion) and Hb SC disease.
Zhuang L et al.
Hemoglobin, 2013
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